Variant report

Variant	rs550206639
Chromosome Location	chr4:20985868-20985869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr4:20985667-20985929	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr4:20985747-20986024	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr4:20985612-20986174	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F6	chr4:20985597-20986140	H1-hESC	embryonic stem cell:	n/a	n/a
5	SIN3A	chr4:20985503-20985971	H1-hESC	embryonic stem cell:	n/a	chr4:20985664-20985673
6	E2F6	chr4:20985706-20986100	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr4:20985652-20986068	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
KCNIP4	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv1013365	chr4:20834054-21609078	Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv829877	chr4:20847465-20992544	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv829878	chr4:20966047-21138626	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20984800-20986200	Active TSS	Rectal Smooth Muscle	rectum
2	chr4:20984800-20986400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr4:20985000-20986600	Active TSS	Colon Smooth Muscle	Colon
4	chr4:20985200-20986000	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr4:20985200-20986200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:20985400-20986000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:20985400-20986000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:20985400-20986000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:20985400-20986000	Active TSS	Brain Anterior Caudate	brain
10	chr4:20985400-20986000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
11	chr4:20985400-20986000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr4:20985400-20986000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:20985400-20986200	Active TSS	H9 Cell Line	embryonic stem cell
14	chr4:20985400-20986200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
15	chr4:20985400-20986200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr4:20985400-20986200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr4:20985400-20986200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:20985400-20986200	Active TSS	Brain Germinal Matrix	brain
19	chr4:20985400-20986200	Active TSS	Fetal Brain Female	brain
20	chr4:20985400-20986200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
21	chr4:20985400-20986400	Bivalent Enhancer	Fetal Brain Male	brain
22	chr4:20985600-20986000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:20985600-20986000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:20985600-20986000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:20985600-20986000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:20985600-20986000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:20985600-20986000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:20985600-20986000	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
29	chr4:20985600-20986000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:20985600-20986000	Enhancers	Gastric	stomach
31	chr4:20985600-20986000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
32	chr4:20985600-20986000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
33	chr4:20985600-20986000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
34	chr4:20985600-20986200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr4:20985600-20986200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:20985600-20986200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr4:20985600-20986200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:20985600-20986200	Enhancers	Brain Substantia Nigra	brain
39	chr4:20985600-20986200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
40	chr4:20985600-20986200	Bivalent Enhancer	Fetal Lung	lung
41	chr4:20985600-20986200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr4:20985600-20986200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr4:20985600-20986200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:20985600-20986400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr4:20985600-20986400	Enhancers	Pancreas	Pancrea
46	chr4:20985800-20986000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:20985800-20986000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr4:20985800-20986000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:20985800-20986000	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr4:20985800-20986000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland

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